SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs117047270
rs117047270 		7 107664388 intron variant T/A snv 3.3E-03
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1057518810
rs1057518810 		7 107663430 missense variant T/C snv 1.4E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1562817224
rs1562817224 		7 107661680 frameshift variant C/- delins
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1562817529
rs1562817529 		7 107661795 stop gained A/T snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1562822565
rs1562822565 		7 107672150 missense variant C/T snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1562835391
rs1562835391 		7 107694400 splice region variant C/G snv
CUI: C0011053
Disease: Deafness
Deafness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs767255075
rs767255075 		7 107700161 missense variant T/C;G snv 1.2E-05; 8.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs17154353
rs17154353 		0.925 0.080 7 107710182 missense variant G/A;T snv 3.7E-03; 8.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17154353
rs17154353 		0.925 0.080 7 107710182 missense variant G/A;T snv 3.7E-03; 8.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17154353
rs17154353 		0.925 0.080 7 107710182 missense variant G/A;T snv 3.7E-03; 8.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs55638457
rs55638457 		1.000 0.080 7 107701183 missense variant T/C snv 8.3E-03 6.0E-03
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs779745819
rs779745819 		1.000 0.080 7 107663393 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs779745819
rs779745819 		1.000 0.080 7 107663393 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1554354370
rs1554354370 		1.000 0.120 7 107672228 missense variant C/T snv
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 12 1998 2017
dbSNP: rs1554355011
rs1554355011 		1.000 0.120 7 107674944 splice acceptor variant G/A snv
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2003 2015
dbSNP: rs141142414
rs141142414 		1.000 0.120 7 107663427 missense variant C/A;G;T snv 4.0E-06; 2.0E-05
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2006 2017
dbSNP: rs1554352676
rs1554352676 		1.000 0.120 7 107663357 missense variant C/T snv
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2007 2014
dbSNP: rs749013429
rs749013429 		1.000 0.120 7 107702030 missense variant C/A;T snv 2.4E-05; 4.0E-06
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2014 2016
dbSNP: rs111033304
rs111033304 		1.000 0.120 7 107683334 missense variant A/C;G snv 1.0E-03
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121908366
rs121908366 		1.000 0.120 7 107696035 missense variant C/A snv
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1399914687
rs1399914687 		1.000 0.120 7 107704370 missense variant T/C;G snv 4.4E-06
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1417146153
rs1417146153 		1.000 0.120 7 107710131 missense variant C/G snv 4.0E-06
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1554352234
rs1554352234 		1.000 0.120 7 107661723 missense variant A/G snv
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs111033380
rs111033380 		1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs111033380
rs111033380 		1.000 0.120 7 107674337 stop gained G/A;T snv 4.0E-06
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0